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Inicio Medicina Clínica (English Edition) Noonan syndrome: Severe phenotype and PTPN11 mutations
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Vol. 152. Issue 2.
Pages 62-64 (January 2019)
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Vol. 152. Issue 2.
Pages 62-64 (January 2019)
Clinical report
DOI: 10.1016/j.medcle.2018.03.033
Noonan syndrome: Severe phenotype and PTPN11 mutations
Síndrome de Noonan: fenotipo grave y mutaciones en el gen PTPN11
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Pilar Carrasco Salasa,
Corresponding author
, Gertrudis Gómez-Molinab, Páxedes Carreto-Albab, Reyes Granell-Escobarb, Ignacio Vázquez-Ricoa, Antonio León-Justela
a Human Genetics Unit, Juan Ramón Jiménez Hospital, Huelva, Spain
b Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Juan Ramón Jiménez Hospital, Huelva, Spain
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Abstract
Introduction and objective

Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein.

Patients and methods

We report two cases of severe NS phenotype including hydrops fetalis. PTPN11 gene was studied in germinal cells of both patients by sequencing.

Results

Two different mutations (p.Gly503Arg and p.Met504Val) was detected in PTPN11 gene.

Discussion

These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases. Therefore, these observations shade light on that it is not always possibly to determine the genotype-phenotype relation based into the impact of mutations on the protein in NS patients with PTPN11 mutations.

Keywords:
Noonan syndrome
PTPN11 gene
Hydrops fetalis
Germline mutations
Resumen
Introducción y objetivo

El síndrome de Noonan (SN) es un trastorno genético caracterizado por una amplia gama de signos distintivos y problemas de salud. Está causado en el 50% de los casos por mutaciones missense en el gen PTPN11. Se ha postulado que es posible predecir el curso de la enfermedad en función del impacto de las mutaciones en la proteína.

Pacientes y métodos

Presentamos 2 casos de fenotipo severo de SN con hydrops fetalis. En ambos casos se realizó la secuenciación del gen PTPN11 en células germinales.

Resultados

Se identificaron 2 mutaciones diferentes en dicho gen (p.Gly503Arg y p.Met504Val).

Discusión

Estas mutaciones ya han sido identificadas previamente, y cuando se presentan en línea germinal, los pacientes pueden presentar SN clásico, SN con alteraciones malignas o recientemente, p.Gly503Arg se ha observado en un paciente con SN e hydrops fetalis, como los 2 casos que presentamos. Por tanto, estas observaciones muestran, que en pacientes con SN y mutaciones en el gen PTPN11, no es siempre posible determinar la relación genotipo-fenotipo en función del impacto de la mutación en la proteína.

Palabras clave:
Síndrome de Noonan
Gen PTPN11
Hydrops fetalis
Mutaciones germinales

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